Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
go back to main search page
Accession:DOID:9001288 term browser browse the term
Definition:This disease is characterized by global developmental delay and hypotonia apparent from birth.
Synonyms:exact_synonym: NEDHYDF
 broad_synonym: GNB2-RELATED CONDITION
 primary_id: OMIM:619503
 alt_id: DOID:9000697
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES OMIM
ClinVar
PMID:25741868 PMID:31698099 PMID:33971351 PMID:34183358 NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Neurodevelopmental Disorders 6147
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              Neurodevelopmental Disorders 6147
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES 1
paths to the root